Thyroid hemiagenesis is an extremely rare congenital abnormality of the thyroid gland, characterized by the absence of one lobe. The true prevalence of this congenital abnormality is uncertain, because the absence of one thyroid lobe usually does not cause clinical symptoms by itself. However, several studies showed that the prevalence of this anomaly was estimated as 0.05-0.2%. Thyroid hemiagenesis is more frequently found in women, and in the left lobe. Commonly found in the remaining lobe are benign adenoma, a multinodular goiter, hyperthyroidism, chronic thyroiditis, and rarely carcinoma. We report a case of 53-year-old woman with an incidentally discovered thyroid nodule. Thyroid ultrasonography and computed tomography scan was performed in order to evaluate the nodule, and they showed the absence of the right thyroid lobe. The nodule was suspected as papillary thyroid cancer and subsequent surgery to remove it confirmed the absence of the right lobe.
Adenoma ; Carcinoma ; Congenital Abnormalities ; Female ; Goiter ; Humans ; Hyperthyroidism ; Middle Aged ; Prevalence ; Thyroid Gland ; Thyroid Neoplasms ; Thyroid Nodule ; Thyroiditis

BACKGROUND AND OBJECTIVES: Nasal obstruction is common in patients with sleep disordered breathing (SDB). Polysomnography (PSG) is a standard diagnositc tool for sleep disorders, but it can not evaluate the quality of life (QOL). We tried to assess the efficacy of the septoturbinoplasty on patients with SDB and nasal obstruction by using self reported measures that have been known as a tool for evaluating the general and disease specific QOL. SUBJECTS AND METHOD: Thirty-five patients who had snoring and sleep apnea confirmed by PSG and symptomatic nasal obstruction caused by deviated nasal septum were enrolled. All patients underwent septoturbinoplasty to improve nasal obstruction. QOL was assessed before and 2 months after surgery. Medical Outcome Study Short Form 36 (SF-36) and Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI), Stanford Sleepiness Scale (SSS), Insomnia Severity Index (ISI), Beck Depression Inventory (K-BDI), Nasal Obstruction Symptom Evaluation (NOSE) scale were included in the measures. A statistical analysis was performed using a paired t-test. RESULTS: Snoring sound level, PSQI, ESS, ISI, and NOSE were improved significantly (p<0.05). SSS, BDI and total SF-36 were improved but not significantly (p>0.05). CONCLUSION: QOL in patients with SDB and nasal obstruction was improved by nasal surgery. Different kinds of self-reported measures could be more informative as they can provide pre and post treatment results with respect to psychosomatic effects in patients with SDB.
Depression ; Humans ; Nasal Obstruction ; Nasal Septum ; Nasal Surgical Procedures ; Nose ; Outcome Assessment (Health Care) ; Polysomnography ; Quality of Life ; Self Report ; Sleep Apnea Syndromes ; Sleep Wake Disorders ; Sleep Initiation and Maintenance Disorders ; Snoring ; Symptom Assessment

BACKGROUND: Recent studies have revealed that a small subset of Lynch syndrome-associated colorectal carcinomas (CRCs) is caused by a germline EPCAM deletion-induced MSH2 epimutation. Based on the finding of this genetic alteration, we investigated the implications of EPCAM expression changes in microsatellite instability-high (MSI-H) CRCs. METHODS: Expression of EPCAM and DNA mismatch repair proteins was assessed by immunohistochemistry in 168 MSI-H CRCs. Using DNA samples of these tumors, MLH1 promoter methylation status was also determined by methylation-specific real-time polymerase chain reaction method (MethyLight). RESULTS: Among 168 MSI-H CRCs, complete loss (CL) and focal loss (FL) of EPCAM expression was observed in two (1.2%) and 22 (13.1%) cases, respectively. Both of the EPCAM-CL cases were found in MSH2-negative tumors without MLH1 promoter methylation. However, only nine of the 22 EPCAM-FL tumors had MSH2 deficiency. Of the 22 EPCAM-FL tumors, 13 showed MLH1 loss, and among them, nine cases were determined to have MLH1 methylation. EPCAM-FL was significantly associated with advanced stage (p=.043), distant metastasis (p=.003), poor differentiation (p=.001), and signet ring cell component (p=.004). CONCLUSIONS: Loss of EPCAM expression is differentially associated with clinicopathological and molecular features, depending on the completeness of the loss, in MSI-H CRCs.
Cellular Structures ; Colorectal Neoplasms* ; DNA ; DNA Mismatch Repair ; Immunohistochemistry ; Methylation ; Microsatellite Instability ; Microsatellite Repeats ; Neoplasm Metastasis ; Real-Time Polymerase Chain Reaction

BACKGROUND: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is caused by mutations in the gene encoding phosphoribosyl pyrophosphate synthetase I (PRPS1). There has been only one case report of CMTX5 patients. The aim of this study was to identify the causative gene in a family with CMTX with peripheral neuropathy and deafness. CASE REPORT: A Korean family with X-linked recessive CMT was enrolled. The age at the onset of hearing loss of the male proband was 5 months, and that of steppage gait was 6 years; he underwent cochlear surgery at the age of 12 years. In contrast to what was reported for the first patients with CMTX5, this patient did not exhibit optic atrophy. Furthermore, there was no cognitive impairment, respiratory dysfunction, or visual disturbance. Assessment of his family history revealed two male relatives with very similar clinical manifestations. Electrophysiological evaluations disclosed sensorineural hearing loss and peripheral neuropathy. Whole-exome sequencing identified a novel p.Ala121Gly (c.362C>G) PRPS1 mutation as the underlying genetic cause of the clinical phenotype. CONCLUSIONS: A novel mutation of PRPS1 was identified in a CMTX5 family in which the proband had a phenotype of peripheral neuropathy with early-onset hearing loss, but no optic atrophy. The findings of this study will expand the clinical spectrum of X-linked recessive CMT and will be useful for the molecular diagnosis of clinically heterogeneous peripheral neuropathies.
Charcot-Marie-Tooth Disease ; Deafness ; Diphosphates ; Exome* ; Gait ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Male ; Optic Atrophy* ; Peripheral Nervous System Diseases ; Phenotype ; Ribose-Phosphate Pyrophosphokinase